rs1800750

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

First study evaluating the pharmacogenetic role of rs1143634 IL1B polymorphism and TNF promoter polymorphisms in infliximab-treated inflammatory bowel disease patients. Found rs1143634 C allele associated with higher serum IL1β concentrations (p=0.0345) and lower response to infliximab in Crohn's disease (p=0.027 for clinical remission). No significant associations found with TNF polymorphisms.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

This case-control study examined three TNF-α promoter polymorphisms in 331 Korean subjects (123 controls, 208 overweight/obese). The G-238A (rs361525) G/G genotype was significantly more frequent in obese subjects (94.7% vs 85.4%, P=0.0046, OR=3.05), suggesting the G allele is a risk factor for obesity. The C-857T (rs1799724) C allele was associated with higher HDL levels (P=0.014), suggesting a protective effect against atherosclerosis.

A large population-based case-control study of TNF-LTA genetic variation in 5,546 breast cancer cases and 5,219 controls (USA and Poland cohorts) found that the variant A allele of rs361525 in the TNF promoter region was associated with modestly increased breast cancer risk (per allele OR=1.18, 95% CI 1.04-1.35, p=0.008). Eight TNF and LTA SNPs were genotyped; haplotype analyses showed the GAG haplotype carrying rs361525 A was associated with elevated risk, while the well-studied TNF-308 variant (rs1800629) showed no association.

This review examines genetic factors in systemic sclerosis (scleroderma), describing multiple genetic loci and candidate genes associated with disease susceptibility. The PTPN22 R620W polymorphism shows strong association with SSc subgroups (OR=2.36 for ATA-positive patients, OR=1.71 for ACA-positive patients). The paper discusses evidence from genome-wide studies and candidate gene approaches, highlighting HLA region polymorphisms, TNF promoter variants, AIF1 rs2269475, and the importance of Fli1 dysregulation in SSc pathogenesis.

Case-control study of 60 Iranian asthmatic patients and 140 controls examining associations between proinflammatory cytokine gene polymorphisms and asthma susceptibility. TNFα -308 GA genotype was significantly associated with asthma (P=0.001), as were IL-1α TC at -889 (P=0.0001) and IL-1β TC at -511 (P=0.0001), while TNFα GG genotype was protective. The TNFα -308/-238 A/A haplotype was highly associated with asthma (P=0.0001).

A case-control study of 82 patients with chronic hepatitis C and 99 controls found that the TNF-α promoter polymorphism at position -238 (TNF238.2 allele, A) was significantly more frequent in chronic active hepatitis C patients (18.7% allele frequency) compared to controls (3.5%; P < 0.0001, pcorr < 0.009; RR = 5.8), suggesting this polymorphism or a linked gene influences susceptibility to chronic hepatitis C infection. No significant association was found for the -308 polymorphism.